Varaico: Literature-Extracted Genetic Variants

Gene:EPCAM
Variant:p.A107delFs
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EPCAM

NM_002354.3:p.A107delFs

Associated Papers

Case Series of Eight Congenital Tufting Enteropathy Patients and Literature Review.

Fang Y et al.

Clinical Genetics, 2025

EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome.

Pathak SJ et al.

Human Mutation, 2019

Novel Mutations in EPCAM Cause Congenital Tufting Enteropathy.

Tang W et al.

Journal of Clinical Gastroenterology, 2018

Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form.

Salomon J et al.

Human Genetics, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."